Lv11
38 积分 2023-01-05 加入
Ectodysplasin pathogenic variants affecting the furin‐cleavage site and unusual clinical features define X‐linked hypohidrotic ectodermal dysplasia in India
13分钟前
待确认
Single gene non‐invasive prenatal screening for autosomal dominant conditions in a high‐risk cohort
5天前
已完结
Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature
5天前
已完结
[Expert consensus on clinical genetic counseling of α-thalassemia gene analysis]
10天前
已完结
Reverse Phenotypes of Patients with Genetically Confirmed Liddle Syndrome
12天前
已关闭
Use of multiplex ligation-dependent probe amplification (MLPA) for Duchenne muscular dystrophy (DMD) gene mutation analysis
13天前
已关闭
Molecular Genetic Etiology and Revisiting the Middle Ear Surgery Outcomes of Branchio-Oto-Renal Syndrome: Experience in a Tertiary Referral Center
14天前
已完结
Pharmacogenetics of aminoglycoside-related ototoxicity: a systematic review
25天前
已完结
Landscape of congenital adrenal hyperplasia cases in adult endocrinology clinics of Türkiye-a nation-wide multicentre study
26天前
已关闭
Landscape of congenital adrenal hyperplasia cases in adult endocrinology clinics of Türkiye-a nation-wide multicentre study
26天前
已完结
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